Pediatric Nephrology

, Volume 20, Issue 4, pp 512–515

A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome

Brief Report

DOI: 10.1007/s00467-004-1751-2

Cite this article as:
Freundlich, M. & Ludwig, M. Pediatr Nephrol (2005) 20: 512. doi:10.1007/s00467-004-1751-2

Abstract

Low-renin hypertension responsive to amiloride-thiazide therapy in a 4-year-old Afro-Haitian girl suggested Liddle syndrome. Urine steroid profiling substantiated the diagnosis and DNA analysis of the epithelial sodium channel (ENaC) revealed a novel heterozygous βENaC mutation in the patient and in her hypertensive father. Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity.

Keywords

Blood pressureHypertensionHypokalemiaAldosteroneRenin

Copyright information

© IPNA 2005

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of MiamiMiamiUSA
  2. 2.Department of Clinical BiochemistryUniversity of BonnBonnGermany
  3. 3.Pediatric Specialty CenterHollywoodUSA